Incidental Mutation 'R5845:Cyp2ab1'
ID 453586
Institutional Source Beutler Lab
Gene Symbol Cyp2ab1
Ensembl Gene ENSMUSG00000022818
Gene Name cytochrome P450, family 2, subfamily ab, polypeptide 1
Synonyms EG224044
MMRRC Submission 044063-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5845 (G1)
Quality Score 180
Status Validated
Chromosome 16
Chromosomal Location 20127137-20144154 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 20131082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 349 (R349H)
Ref Sequence ENSEMBL: ENSMUSP00000138133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023513] [ENSMUST00000182508] [ENSMUST00000182741]
AlphaFold S4R196
Predicted Effect probably benign
Transcript: ENSMUST00000023513
AA Change: R131H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000023513
Gene: ENSMUSG00000022818
AA Change: R131H

DomainStartEndE-ValueType
Pfam:p450 1 268 3.7e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182508
AA Change: R131H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182736
Predicted Effect probably benign
Transcript: ENSMUST00000182741
AA Change: R349H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000138133
Gene: ENSMUSG00000022818
AA Change: R349H

DomainStartEndE-ValueType
Pfam:p450 31 486 3.3e-121 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.3%
Validation Efficiency 97% (59/61)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A T 5: 121,764,146 (GRCm39) Y928N probably benign Het
Amz2 T C 11: 109,324,755 (GRCm39) F213S probably damaging Het
Cage1 T A 13: 38,199,682 (GRCm39) S732C probably damaging Het
Ccnf C A 17: 24,459,767 (GRCm39) D229Y possibly damaging Het
Cdon G T 9: 35,368,762 (GRCm39) C332F probably damaging Het
Clca3b G A 3: 144,531,077 (GRCm39) R758C possibly damaging Het
Dock10 C T 1: 80,483,459 (GRCm39) probably benign Het
Dock5 A T 14: 68,078,550 (GRCm39) Y225N possibly damaging Het
Ear2 G A 14: 44,340,618 (GRCm39) R92K probably benign Het
Eif3c T C 7: 126,163,927 (GRCm39) S39G probably damaging Het
Eml3 A G 19: 8,916,582 (GRCm39) D701G probably damaging Het
Fat3 G A 9: 16,288,506 (GRCm39) T339I probably damaging Het
Fbn2 T C 18: 58,186,840 (GRCm39) D1687G possibly damaging Het
Fcnb C T 2: 27,969,633 (GRCm39) probably null Het
Flacc1 T A 1: 58,706,937 (GRCm39) E243D possibly damaging Het
Fscb A G 12: 64,519,558 (GRCm39) V636A unknown Het
Gm6124 A G 7: 38,869,299 (GRCm39) noncoding transcript Het
Hectd4 T A 5: 121,445,587 (GRCm39) probably null Het
Hrnr A T 3: 93,239,944 (GRCm39) H3394L unknown Het
Hs1bp3 A G 12: 8,386,275 (GRCm39) R226G probably benign Het
Ifngr2 T C 16: 91,351,947 (GRCm39) V61A probably benign Het
Irag2 G A 6: 145,117,392 (GRCm39) M376I probably benign Het
Kcnk2 T C 1: 189,009,918 (GRCm39) probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Mgam T A 6: 40,652,257 (GRCm39) N810K possibly damaging Het
Mis18a A G 16: 90,518,522 (GRCm39) probably null Het
Nsmce3 A G 7: 64,521,936 (GRCm39) V244A possibly damaging Het
Or10ag59 T C 2: 87,406,367 (GRCm39) I313T probably benign Het
Plxna4 A T 6: 32,214,711 (GRCm39) V590D probably damaging Het
Prkab1 A T 5: 116,162,219 (GRCm39) D30E probably benign Het
Rasgrp3 A T 17: 75,810,142 (GRCm39) N281Y possibly damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Septin2 T A 1: 93,426,757 (GRCm39) probably null Het
Slc26a6 T G 9: 108,739,282 (GRCm39) V609G possibly damaging Het
Spta1 T A 1: 174,068,662 (GRCm39) M2154K probably damaging Het
Stoml2 T G 4: 43,030,008 (GRCm39) probably benign Het
Sult6b1 A C 17: 79,202,059 (GRCm39) S148A probably damaging Het
Tmem131l A G 3: 83,847,860 (GRCm39) V335A probably damaging Het
Tmem221 T A 8: 72,007,788 (GRCm39) probably null Het
Tmem88 C G 11: 69,288,504 (GRCm39) Q138H probably benign Het
Trpm8 T C 1: 88,255,902 (GRCm39) Y186H probably benign Het
Trpv1 T C 11: 73,131,407 (GRCm39) I7T probably damaging Het
Ttc34 T C 4: 154,949,929 (GRCm39) S961P probably benign Het
Ubr1 T C 2: 120,734,486 (GRCm39) D1138G probably benign Het
Ubr7 C T 12: 102,732,571 (GRCm39) R188C probably damaging Het
Uspl1 C T 5: 149,130,770 (GRCm39) P118S probably benign Het
Vdr C A 15: 97,767,647 (GRCm39) E114D possibly damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zswim4 T A 8: 84,943,871 (GRCm39) probably null Het
Other mutations in Cyp2ab1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02259:Cyp2ab1 APN 16 20,131,897 (GRCm39) missense probably damaging 0.99
IGL03301:Cyp2ab1 APN 16 20,132,549 (GRCm39) missense possibly damaging 0.53
R2073:Cyp2ab1 UTSW 16 20,132,639 (GRCm39) missense possibly damaging 0.57
R4657:Cyp2ab1 UTSW 16 20,131,822 (GRCm39) missense probably damaging 1.00
R4851:Cyp2ab1 UTSW 16 20,133,814 (GRCm39) missense probably damaging 1.00
R5546:Cyp2ab1 UTSW 16 20,132,507 (GRCm39) missense probably damaging 1.00
R7177:Cyp2ab1 UTSW 16 20,135,469 (GRCm39) missense probably null 0.99
R7251:Cyp2ab1 UTSW 16 20,134,646 (GRCm39) missense possibly damaging 0.70
R7410:Cyp2ab1 UTSW 16 20,135,475 (GRCm39) missense probably benign
R7798:Cyp2ab1 UTSW 16 20,131,166 (GRCm39) missense probably benign 0.04
R8053:Cyp2ab1 UTSW 16 20,133,018 (GRCm39) missense probably benign 0.35
R9597:Cyp2ab1 UTSW 16 20,135,340 (GRCm39) missense probably benign
R9741:Cyp2ab1 UTSW 16 20,132,953 (GRCm39) missense probably damaging 0.99
Z1177:Cyp2ab1 UTSW 16 20,132,631 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- ATCGGTAGCAAGTGCCTGTG -3'
(R):5'- AAAGTCTCTCCTGTGACACTGTTG -3'

Sequencing Primer
(F):5'- CAAGTGCCTGTGCTGGGAAG -3'
(R):5'- GACCTAGGGCTGTGACTGTAGC -3'
Posted On 2017-02-10